Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele

被引：21

作者：

Mani, Rahma ^{[1
,2
]}

Belkacem, Sabrina ^{[1
]}

Soua, Zohra ^{[2
]}

Chantot, Sandra ^{[3
]}

Montantin, Guy ^{[1
]}

Tissier, Sylvie ^{[1
]}

Copin, Bruno ^{[1
]}

Bouguila, Jihene ^{[4
]}

Le Gouard, Nicolas Rive ^{[1
]}

Boughamoura, Lamia ^{[4
]}

Ben Ameur, Salma ^{[5
]}

Hachicha, Mongia ^{[5
]}

Boussoffara, Raoudha ^{[6
]}

Boussetta, Khadija ^{[7
]}

Hammouda, Samia ^{[7
]}

Bedoui, Abir ^{[4
]}

Besbes, Habib ^{[8
]}

Meddeb, Seif ^{[7
]}

Chraeit, Karima ^{[9
]}

Khlifa, Monia ^{[10
]}

Escudier, Estelle ^{[1
]}

Amselem, Serge ^{[1
]}

Mabrouk, Imed ^{[2
]}

Legendre, Marie ^{[1
]}

机构：

[1] Sorbonne Univ, Hop Armand Trousseau, AP HP, UF Genet Mol,INSERM UMR S933, Paris, France

[2] Univ Sousse, Fac Med Sousse, Unite Rech Biol Mol Leucemies & Lymphomes, UR14ES19, Sousse, Tunisia

[3] Hop Armand Trousseau, AP HP, UF Genet Chromosom, Paris, France

[4] CHU Farhat Hached, Serv Pediat, Sousse, Tunisia

[5] CHU Hedi Chaker, Serv Pediat, Sfax, Tunisia

[6] CHU Tahar Sfar, Serv Pediat, Mandia, Tunisia

[7] Hop Enfant Bechir Hamza, Dept Pediat B, Tunis, Tunisia

[8] CHU Fattouma Bourguiba, Serv Pediat, Monastir, Tunisia

[9] CHU Mohamed Tlatli, Serv Pediat, Nabeul, Tunisia

[10] Hop Reg MSaken, Serv Pediat, Sousse, Tunisia

来源：

HUMAN MUTATION | 2020年 / 41卷 / 01期

关键词：

CCDC39; cilia; founder effect; Kartagener syndrome; primary ciliary dyskinesia; DYNEIN REGULATORY COMPLEX; MUTATIONS; DIAGNOSIS; IMMUNOFLUORESCENCE; ACCURACY; PICADAR; TOOL;

D O I：

10.1002/humu.23905

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North-African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients. Forty clinically diagnosed patients with PCD belonging to 34 families were recruited from Tunisian pediatric departments. In each proband, targeted capture PCD panel sequencing of the 40 PCD genes was performed. PCD panel sequencing identified bi-allelic mutations in 82% of the families in eight PCD genes. Remarkably, 23.5% of patients carried the same c.2190del CCDC39 mutation. Single nucleotide polymorphism profiling in six unrelated patients carrying this mutation has revealed a founder effect in North-African patients. This mutation is estimated to date back at least 1,400-1,750 years ago. The identification of this major allele allowed us to suggest a cost-effective genetic diagnostic strategy in North-African patients with PCD.

引用

页码：115 / 121

页数：7